A de novo missense variant in the KIF14 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the KIF14 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 3 CNVs from SCZ cases (5 total) vs. 0 CNVs in controls (Odds ratio 6.55, P = 1.0E-05)].
Molecular Function
This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. Biallelic mutations in this gene are responsible for an autosomal recessive form of microcephaly (autosomal recessive primary microcephaly-20 or MCPH20; OMIM 617914); autistic features were reported in both affected siblings from one of four families with this disorder in Makrythanasis et al., 2018.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
